Polymorphisms associated with parkinson's disease

Abstract

The invention provides human polymorphisms that are associated with Parkinson's disease (PD). Also disclosed are compositions and methods for use in diagnostics, prognostics, prevention, treatment and/or study of PD.

1 . A method for screening a human subject with a LRKK2 G2019S mutation for susceptibility to PD, the method comprising:
 obtaining a nucleic acid sample from the human subject; and   determining which allele is present in the sample at the polymorphic nucleotide position of SNP rs11755699 (SEQ ID NO: 9), wherein presence of C at the polymorphic nucleotide position is indicative of a lower risk of developing PD.   
     
     
         2 . A purified nucleic acid molecule that specifically hybridizes to a PD-related nucleic acid, for use in diagnostics, prognostics, prevention, treatment or study of PD, wherein said PD-related nucleic acid contains a base at one or more of the polymorphic nucleotide positions identified in Tables 1-2 (SEQ ID NO: 1-8) or 2-2 (SEQ ID NO: 9). 
     
     
         3 . A purified nucleic acid molecule of  claim 2  that specifically hybridizes to at least 16 contiguous nucleotides of said PD-related nucleic acid. 
     
     
         4 . A purified nucleic acid molecule of  claim 2  further comprising a detectable label. 
     
     
         5 . A method for treating or preventing the development of PD, comprising administering to a subject suffering from or identified at risk for PD an agent that modulates expression or activity of a protein further modulated by a PD-related nucleic acid containing a base at one or more of the polymorphic nucleotide positions identified in Tables 1-2 (SEQ ID NO: 1-8) or 2-2 (SEQ ID NO: 9). 
     
     
         6 . A method of identifying a modulator of a PD phenotype, the method comprising contacting a potential modulator to a gene or gene product, wherein the gene or gene product comprises or is associated with or regulated by a PD-related nucleic acid containing a base at one or more of the polymorphic nucleotide positions identified in Tables 1-2 (SEQ ID NO: 1-8) or 2-2 (SEQ ID NO: 9) and, detecting an effect of the potential modulator on the gene or gene product, thereby identifying whether the potential modulator modulates the PD phenotype. 
     
     
         7 . The method of  claim 6 , wherein the effect is selected from: (a) increased or decreased expression of the gene or gene product in the presence of the modulator; (b) increased or decreased activity of the gene product in the presence of the modulator; and (c) an altered expression pattern of the gene or gene product in the presence of the modulator.